Central Nervous System Involvement In Fabry Disease.

Autor: Kolodny, Eh¹

Publikováno v: Current Medical Literature: Lysosomal Storage Disease. 2003, Vol. 3 Issue 2, p31-40. 10p.

Gaucher disease: Basic and translational science needs for more complete therapy and management.

Autor: Grabowski GA; Department of Pediatrics, University of Cincinnati College of Medicine, United States of America; Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, United States of America; Division of Human Genetics, Cincinnati Children's Research Foundation, Cincinnati, OH, United States of America. Electronic address: grabgo317@comcast.net., Antommaria AHM; Department of Pediatrics, University of Cincinnati College of Medicine, United States of America; Lee Ault Carter Chair of Pediatric Ethics, Cincinnati Children's Research Foundation, Cincinnati, OH, United States of America. Electronic address: Armand.Antommaria@CCHMC.org., Kolodny EH; Department of Neurology, New York University Grossman School of Medicine, New York, NY, United States of America. Electronic address: ckolc@yahoo.com., Mistry PK; Departments of Medicine and Pediatrics, Yale School of Medicine, New Haven, CT, United States of America. Electronic address: pramod.mistry@yale.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2021 Feb; Vol. 132 (2), pp. 59-75. Date of Electronic Publication: 2020 Dec 29.

Gaucher disease type 1: revisedrecommendations on evaluations and monitoring for adult patients

Autor: Weinreb NJ, Aggio MC, Andersson HC, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A., ANDRIA, GENEROSO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::58a82fe85292c1ca5ac084d6aa3c7fd7
http://hdl.handle.net/11588/507824

Experimental nerve block study on painful withdrawal reflex responses in humans.

Autor: Thorell, Oumie^1,2 (AUTHOR) oumie.thorell@liu.se, Mahns, David¹ (AUTHOR), Otto, Jan³ (AUTHOR), Liljencrantz, Jaquette⁴ (AUTHOR), Svantesson, Mats² (AUTHOR), Olausson, Håkan² (AUTHOR), Nagi, Saad^1,2 (AUTHOR)

Publikováno v: PLoS ONE. 8/16/2024, Vol. 19 Issue 8, p1-15. 15p.

Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion.

Autor: El-Beshlawy, Amal¹ (AUTHOR), Tantawy, Azza A. G.² (AUTHOR) azatantawy@hotmail.com, Shawky, Rabah M.² (AUTHOR), Elsayed, Solaf M.³ (AUTHOR), Marzouk, Iman M.⁴ (AUTHOR), Elgawhary, S.⁵ (AUTHOR), Abdelghaffar, Hadeer⁶ (AUTHOR), Safy, Usama El⁷ (AUTHOR), Eid, Khaled¹ (AUTHOR), EISayh, Khalid I.⁸ (AUTHOR), Megahed, Ahmed⁹ (AUTHOR), Adly, Amira² (AUTHOR), Sherif, Eman M.² (AUTHOR), Youssef, Mervat A. M.⁸ (AUTHOR), Fathy, Manar Mohamed⁷ (AUTHOR), Salah, Nouran Yousef² (AUTHOR), Elzeiny, Sherine M.⁹ (AUTHOR), EI Bakky, Eslam Rabie Abdel Aziz⁶ (AUTHOR), Fateen, Ekram¹⁰ (AUTHOR)

Publikováno v: Egyptian Journal of Medical Human Genetics. 7/31/2024, Vol. 25 Issue 1, p1-16. 16p.